ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1264G>T (p.Glu422Ter)

dbSNP: rs63751712
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076083 SCV000107098 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing a premature termination codon
Ambry Genetics RCV002408592 SCV002676262 pathogenic Hereditary cancer-predisposing syndrome 2021-04-23 criteria provided, single submitter clinical testing The p.E422* pathogenic mutation (also known as c.1264G>T), located in coding exon 7 of the MSH2 gene, results from a G to T substitution at nucleotide position 1264. This changes the amino acid from a glutamic acid to a stop codon within coding exon 7. This mutation was reported in a Hungarian hereditary nonpolyposis colon cancer (HNPCC) family (Tanyi M et al. World J Gastroenterol, 2006 Feb;12:1192-7). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003452813 SCV004186967 pathogenic Lynch syndrome 1 2023-08-01 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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